Source:http://linkedlifedata.com/resource/pubmed/id/11956055
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8
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pubmed:dateCreated |
2002-4-16
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pubmed:abstractText |
Interindividual variation in the expression of tumor necrosis factor (TNF)-alpha suggests the existence of functionally distinct TNF alleles, which might play a role in sarcoidosis. We investigated five potentially functional biallelic TNF promoter polymorphisms at nucleotide positions -1,031(T/C), -863(C/A), -857(C/T), -307(G/A), and -237(G/A) in two clinically well-defined groups of white patients (British [UK] and Dutch [NL]) with sarcoidosis, each with their own control subjects. Polymorphisms were determined using SSP-PCR. A total of 772 individuals were studied (96 UK patients, 354 UK control subjects, 100 NL patients, 222 NL controls). A significant increase in the rarer TNF -857T allele was found in both sarcoidosis populations. In total 25.5% of the sarcoid patients carried the TNF -857T allele versus 14.1% of the control subjects (p = 0.003, p(c) = 0.02). In the sarcoidosis group the allele frequency of this polymorphism was 13.5% versus 7.3% in the control subjects (p = 0.0003, p(c) = 0.002). Subgroup analysis showed a significant increase in the rarer TNF -307A (TNF-2) allele in patients with Löfgren's syndrome (p = 0.006, p(c) = 0.03). Our finding does not necessarily imply that the two polymorphisms relate to different functions; it may be that one or both are in linkage disequilibrium with the causal site. This requires further studies of functionality and linkage disequilibrium.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1073-449X
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pubmed:author |
pubmed-author:GruttersJan CJC,
pubmed-author:LaganAnna LAL,
pubmed-author:LammersJan-Willem JJW,
pubmed-author:McGrathDeirdre SDS,
pubmed-author:PantelidisPanagiotisP,
pubmed-author:SatoHiroeH,
pubmed-author:WellsAthol UAU,
pubmed-author:WelshKenneth IKI,
pubmed-author:du BoisRoland MRM,
pubmed-author:van den BoschJules M MJM
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
165
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1119-24
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:11956055-Gene Frequency,
pubmed-meshheading:11956055-Genotype,
pubmed-meshheading:11956055-Great Britain,
pubmed-meshheading:11956055-Haplotypes,
pubmed-meshheading:11956055-Humans,
pubmed-meshheading:11956055-Netherlands,
pubmed-meshheading:11956055-Phenotype,
pubmed-meshheading:11956055-Point Mutation,
pubmed-meshheading:11956055-Polymerase Chain Reaction,
pubmed-meshheading:11956055-Polymorphism, Genetic,
pubmed-meshheading:11956055-Promoter Regions, Genetic,
pubmed-meshheading:11956055-Sarcoidosis, Pulmonary,
pubmed-meshheading:11956055-Tumor Necrosis Factor-alpha
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pubmed:year |
2002
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pubmed:articleTitle |
Increased frequency of the uncommon tumor necrosis factor -857T allele in British and Dutch patients with sarcoidosis.
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pubmed:affiliation |
Heart Lung Center Utrecht, Department of Pulmonology, Sint Antonius Hospital, Nieuwegein, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
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